NM_007294.4(BRCA1):c.81-17C>G AND not specified

Germline classification:: Benign/Likely benign (2 submissions)
Last evaluated:: Mar 14, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000441560.7

Allele description [Variation Report for NM_007294.4(BRCA1):c.81-17C>G]

NM_007294.4(BRCA1):c.81-17C>G

Gene:

BRCA1:BRCA1 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.31

Genomic location:

Preferred name:

NM_007294.4(BRCA1):c.81-17C>G

HGVS:

NC_000017.11:g.43115796G>C
NG_005905.2:g.102188C>G
NM_001407571.1:c.-108-17C>G
NM_001407581.1:c.81-17C>G
NM_001407582.1:c.81-17C>G
NM_001407583.1:c.81-17C>G
NM_001407585.1:c.81-17C>G
NM_001407587.1:c.81-17C>G
NM_001407590.1:c.81-17C>G
NM_001407591.1:c.81-17C>G
NM_001407593.1:c.81-17C>G
NM_001407594.1:c.81-17C>G
NM_001407596.1:c.81-17C>G
NM_001407597.1:c.81-17C>G
NM_001407598.1:c.81-17C>G
NM_001407602.1:c.81-17C>G
NM_001407603.1:c.81-17C>G
NM_001407605.1:c.81-17C>G
NM_001407610.1:c.81-17C>G
NM_001407611.1:c.81-17C>G
NM_001407612.1:c.81-17C>G
NM_001407613.1:c.81-17C>G
NM_001407614.1:c.81-17C>G
NM_001407615.1:c.81-17C>G
NM_001407616.1:c.81-17C>G
NM_001407617.1:c.81-17C>G
NM_001407618.1:c.81-17C>G
NM_001407619.1:c.81-17C>G
NM_001407620.1:c.81-17C>G
NM_001407621.1:c.81-17C>G
NM_001407622.1:c.81-17C>G
NM_001407623.1:c.81-17C>G
NM_001407624.1:c.81-17C>G
NM_001407625.1:c.81-17C>G
NM_001407626.1:c.81-17C>G
NM_001407627.1:c.81-17C>G
NM_001407628.1:c.81-17C>G
NM_001407629.1:c.81-17C>G
NM_001407630.1:c.81-17C>G
NM_001407631.1:c.81-17C>G
NM_001407632.1:c.81-17C>G
NM_001407633.1:c.81-17C>G
NM_001407634.1:c.81-17C>G
NM_001407635.1:c.81-17C>G
NM_001407636.1:c.81-17C>G
NM_001407637.1:c.81-17C>G
NM_001407638.1:c.81-17C>G
NM_001407639.1:c.81-17C>G
NM_001407640.1:c.81-17C>G
NM_001407641.1:c.81-17C>G
NM_001407642.1:c.81-17C>G
NM_001407644.1:c.81-17C>G
NM_001407645.1:c.81-17C>G
NM_001407646.1:c.81-17C>G
NM_001407647.1:c.81-17C>G
NM_001407648.1:c.81-17C>G
NM_001407649.1:c.81-17C>G
NM_001407652.1:c.81-17C>G
NM_001407653.1:c.81-17C>G
NM_001407654.1:c.81-17C>G
NM_001407655.1:c.81-17C>G
NM_001407656.1:c.81-17C>G
NM_001407657.1:c.81-17C>G
NM_001407658.1:c.81-17C>G
NM_001407659.1:c.81-17C>G
NM_001407660.1:c.81-17C>G
NM_001407661.1:c.81-17C>G
NM_001407662.1:c.81-17C>G
NM_001407663.1:c.81-17C>G
NM_001407664.1:c.81-17C>G
NM_001407665.1:c.81-17C>G
NM_001407666.1:c.81-17C>G
NM_001407667.1:c.81-17C>G
NM_001407668.1:c.81-17C>G
NM_001407669.1:c.81-17C>G
NM_001407670.1:c.81-17C>G
NM_001407671.1:c.81-17C>G
NM_001407672.1:c.81-17C>G
NM_001407673.1:c.81-17C>G
NM_001407674.1:c.81-17C>G
NM_001407675.1:c.81-17C>G
NM_001407676.1:c.81-17C>G
NM_001407677.1:c.81-17C>G
NM_001407678.1:c.81-17C>G
NM_001407679.1:c.81-17C>G
NM_001407680.1:c.81-17C>G
NM_001407681.1:c.81-17C>G
NM_001407682.1:c.81-17C>G
NM_001407683.1:c.81-17C>G
NM_001407684.1:c.81-17C>G
NM_001407685.1:c.81-17C>G
NM_001407686.1:c.81-17C>G
NM_001407687.1:c.81-17C>G
NM_001407688.1:c.81-17C>G
NM_001407689.1:c.81-17C>G
NM_001407690.1:c.81-17C>G
NM_001407691.1:c.81-17C>G
NM_001407692.1:c.-7-9263C>G
NM_001407694.1:c.-177-17C>G
NM_001407695.1:c.-181-17C>G
NM_001407696.1:c.-177-17C>G
NM_001407697.1:c.-61-17C>G
NM_001407698.1:c.-8+8221C>G
NM_001407724.1:c.-177-17C>G
NM_001407725.1:c.-61-17C>G
NM_001407726.1:c.-8+5762C>G
NM_001407727.1:c.-177-17C>G
NM_001407728.1:c.-61-17C>G
NM_001407729.1:c.-61-17C>G
NM_001407730.1:c.-61-17C>G
NM_001407731.1:c.-177-17C>G
NM_001407732.1:c.-8+8221C>G
NM_001407733.1:c.-177-17C>G
NM_001407734.1:c.-61-17C>G
NM_001407735.1:c.-61-17C>G
NM_001407736.1:c.-8+8221C>G
NM_001407737.1:c.-61-17C>G
NM_001407738.1:c.-8+8221C>G
NM_001407739.1:c.-61-17C>G
NM_001407740.1:c.-61-17C>G
NM_001407741.1:c.-61-17C>G
NM_001407742.1:c.-8+8221C>G
NM_001407743.1:c.-61-17C>G
NM_001407744.1:c.-8+8221C>G
NM_001407745.1:c.-61-17C>G
NM_001407746.1:c.-177-17C>G
NM_001407747.1:c.-7-9263C>G
NM_001407748.1:c.-61-17C>G
NM_001407749.1:c.-177-17C>G
NM_001407750.1:c.-8+8221C>G
NM_001407751.1:c.-8+5762C>G
NM_001407752.1:c.-61-17C>G
NM_001407838.1:c.-61-17C>G
NM_001407839.1:c.-61-17C>G
NM_001407841.1:c.-57-17C>G
NM_001407842.1:c.-177-17C>G
NM_001407843.1:c.-177-17C>G
NM_001407844.1:c.-61-17C>G
NM_001407845.1:c.-8+8221C>G
NM_001407846.1:c.-61-17C>G
NM_001407847.1:c.-61-17C>G
NM_001407848.1:c.-61-17C>G
NM_001407849.1:c.-8+8221C>G
NM_001407850.1:c.-61-17C>G
NM_001407851.1:c.-61-17C>G
NM_001407852.1:c.-8+8221C>G
NM_001407853.1:c.-108-17C>G
NM_001407854.1:c.81-17C>G
NM_001407858.1:c.81-17C>G
NM_001407859.1:c.81-17C>G
NM_001407860.1:c.81-17C>G
NM_001407861.1:c.81-17C>G
NM_001407862.1:c.81-17C>G
NM_001407863.1:c.81-17C>G
NM_001407874.1:c.81-17C>G
NM_001407875.1:c.81-17C>G
NM_001407879.1:c.-108-17C>G
NM_001407881.1:c.-55+8221C>G
NM_001407882.1:c.-108-17C>G
NM_001407884.1:c.-108-17C>G
NM_001407885.1:c.-108-17C>G
NM_001407886.1:c.-108-17C>G
NM_001407887.1:c.-108-17C>G
NM_001407889.1:c.-224-17C>G
NM_001407894.1:c.-108-17C>G
NM_001407895.1:c.-108-17C>G
NM_001407896.1:c.-108-17C>G
NM_001407897.1:c.-108-17C>G
NM_001407898.1:c.-55+8221C>G
NM_001407899.1:c.-108-17C>G
NM_001407900.1:c.-224-17C>G
NM_001407902.1:c.-55+8221C>G
NM_001407904.1:c.-108-17C>G
NM_001407906.1:c.-108-17C>G
NM_001407907.1:c.-108-17C>G
NM_001407908.1:c.-108-17C>G
NM_001407909.1:c.-108-17C>G
NM_001407910.1:c.-108-17C>G
NM_001407915.1:c.-108-17C>G
NM_001407916.1:c.-108-17C>G
NM_001407917.1:c.-108-17C>G
NM_001407918.1:c.-108-17C>G
NM_001407919.1:c.81-17C>G
NM_001407920.1:c.-61-17C>G
NM_001407921.1:c.-61-17C>G
NM_001407922.1:c.-61-17C>G
NM_001407923.1:c.-61-17C>G
NM_001407924.1:c.-8+8221C>G
NM_001407925.1:c.-8+8221C>G
NM_001407926.1:c.-61-17C>G
NM_001407927.1:c.-61-17C>G
NM_001407928.1:c.-8+8221C>G
NM_001407929.1:c.-8+8221C>G
NM_001407930.1:c.-177-17C>G
NM_001407931.1:c.-7-9263C>G
NM_001407932.1:c.-8+8221C>G
NM_001407933.1:c.-61-17C>G
NM_001407934.1:c.-61-17C>G
NM_001407935.1:c.-61-17C>G
NM_001407936.1:c.-8+8221C>G
NM_001407937.1:c.81-17C>G
NM_001407938.1:c.81-17C>G
NM_001407939.1:c.81-17C>G
NM_001407940.1:c.81-17C>G
NM_001407941.1:c.81-17C>G
NM_001407942.1:c.-177-17C>G
NM_001407943.1:c.-61-17C>G
NM_001407944.1:c.-61-17C>G
NM_001407945.1:c.-8+8221C>G
NM_001407946.1:c.-108-17C>G
NM_001407947.1:c.-108-17C>G
NM_001407948.1:c.-108-17C>G
NM_001407949.1:c.-108-17C>G
NM_001407950.1:c.-108-17C>G
NM_001407951.1:c.-108-17C>G
NM_001407952.1:c.-108-17C>G
NM_001407953.1:c.-108-17C>G
NM_001407954.1:c.-108-17C>G
NM_001407955.1:c.-108-17C>G
NM_001407956.1:c.-108-17C>G
NM_001407957.1:c.-108-17C>G
NM_001407958.1:c.-108-17C>G
NM_001407959.1:c.-170+9481C>G
NM_001407960.1:c.-223-17C>G
NM_001407962.1:c.-223-17C>G
NM_001407963.1:c.-170+9475C>G
NM_001407964.1:c.-61-17C>G
NM_001407965.1:c.-339-17C>G
NM_001407966.1:c.-219+9475C>G
NM_001407967.1:c.-219+9481C>G
NM_001407968.1:c.81-17C>G
NM_001407969.1:c.81-17C>G
NM_001407970.1:c.81-17C>G
NM_001407971.1:c.81-17C>G
NM_001407972.1:c.81-17C>G
NM_001407973.1:c.81-17C>G
NM_001407974.1:c.81-17C>G
NM_001407975.1:c.81-17C>G
NM_001407976.1:c.81-17C>G
NM_001407977.1:c.81-17C>G
NM_001407978.1:c.81-17C>G
NM_001407979.1:c.81-17C>G
NM_001407980.1:c.81-17C>G
NM_001407981.1:c.81-17C>G
NM_001407982.1:c.81-17C>G
NM_001407983.1:c.81-17C>G
NM_001407984.1:c.81-17C>G
NM_001407985.1:c.81-17C>G
NM_001407986.1:c.81-17C>G
NM_001407990.1:c.81-17C>G
NM_001407991.1:c.81-17C>G
NM_001407992.1:c.81-17C>G
NM_001407993.1:c.81-17C>G
NM_001408392.1:c.81-17C>G
NM_001408396.1:c.81-17C>G
NM_001408397.1:c.81-17C>G
NM_001408398.1:c.81-17C>G
NM_001408399.1:c.81-17C>G
NM_001408400.1:c.81-17C>G
NM_001408401.1:c.81-17C>G
NM_001408402.1:c.81-17C>G
NM_001408403.1:c.81-17C>G
NM_001408404.1:c.81-17C>G
NM_001408406.1:c.81-17C>G
NM_001408407.1:c.81-17C>G
NM_001408408.1:c.81-17C>G
NM_001408409.1:c.81-17C>G
NM_001408410.1:c.-61-17C>G
NM_001408411.1:c.81-17C>G
NM_001408412.1:c.81-17C>G
NM_001408413.1:c.81-17C>G
NM_001408414.1:c.81-17C>G
NM_001408415.1:c.81-17C>G
NM_001408416.1:c.81-17C>G
NM_001408418.1:c.81-17C>G
NM_001408419.1:c.81-17C>G
NM_001408420.1:c.81-17C>G
NM_001408421.1:c.81-17C>G
NM_001408422.1:c.81-17C>G
NM_001408423.1:c.81-17C>G
NM_001408424.1:c.81-17C>G
NM_001408425.1:c.81-17C>G
NM_001408426.1:c.81-17C>G
NM_001408427.1:c.81-17C>G
NM_001408428.1:c.81-17C>G
NM_001408429.1:c.81-17C>G
NM_001408430.1:c.81-17C>G
NM_001408431.1:c.81-17C>G
NM_001408432.1:c.81-17C>G
NM_001408433.1:c.81-17C>G
NM_001408434.1:c.81-17C>G
NM_001408435.1:c.81-17C>G
NM_001408436.1:c.81-17C>G
NM_001408437.1:c.81-17C>G
NM_001408438.1:c.81-17C>G
NM_001408439.1:c.81-17C>G
NM_001408440.1:c.81-17C>G
NM_001408441.1:c.81-17C>G
NM_001408442.1:c.81-17C>G
NM_001408443.1:c.81-17C>G
NM_001408444.1:c.81-17C>G
NM_001408445.1:c.81-17C>G
NM_001408446.1:c.81-17C>G
NM_001408447.1:c.81-17C>G
NM_001408448.1:c.81-17C>G
NM_001408450.1:c.81-17C>G
NM_001408451.1:c.80+8221C>G
NM_001408452.1:c.-61-17C>G
NM_001408453.1:c.-61-17C>G
NM_001408454.1:c.-8+8221C>G
NM_001408455.1:c.-177-17C>G
NM_001408456.1:c.-177-17C>G
NM_001408457.1:c.-7-9263C>G
NM_001408458.1:c.-61-17C>G
NM_001408459.1:c.-8+8221C>G
NM_001408460.1:c.-8+8221C>G
NM_001408461.1:c.-8+8221C>G
NM_001408462.1:c.-61-17C>G
NM_001408463.1:c.-61-17C>G
NM_001408464.1:c.-8+8221C>G
NM_001408465.1:c.-181-17C>G
NM_001408466.1:c.-61-17C>G
NM_001408467.1:c.-8+8221C>G
NM_001408468.1:c.-177-17C>G
NM_001408469.1:c.-61-17C>G
NM_001408470.1:c.-61-17C>G
NM_001408472.1:c.81-17C>G
NM_001408473.1:c.81-17C>G
NM_001408474.1:c.81-17C>G
NM_001408475.1:c.81-17C>G
NM_001408476.1:c.81-17C>G
NM_001408478.1:c.-108-17C>G
NM_001408479.1:c.-108-17C>G
NM_001408480.1:c.-108-17C>G
NM_001408481.1:c.-108-17C>G
NM_001408482.1:c.-108-17C>G
NM_001408483.1:c.-108-17C>G
NM_001408484.1:c.-108-17C>G
NM_001408485.1:c.-108-17C>G
NM_001408489.1:c.-108-17C>G
NM_001408490.1:c.-108-17C>G
NM_001408491.1:c.-108-17C>G
NM_001408492.1:c.-224-17C>G
NM_001408493.1:c.-108-17C>G
NM_001408494.1:c.81-17C>G
NM_001408495.1:c.81-17C>G
NM_001408496.1:c.-8+8221C>G
NM_001408497.1:c.-61-17C>G
NM_001408498.1:c.-8+8221C>G
NM_001408499.1:c.-61-17C>G
NM_001408500.1:c.-61-17C>G
NM_001408501.1:c.-177-17C>G
NM_001408502.1:c.-108-17C>G
NM_001408503.1:c.-61-17C>G
NM_001408504.1:c.-61-17C>G
NM_001408505.1:c.-61-17C>G
NM_001408506.1:c.-108-17C>G
NM_001408507.1:c.-108-17C>G
NM_001408508.1:c.-108-17C>G
NM_001408509.1:c.-108-17C>G
NM_001408510.1:c.-223-17C>G
NM_001408511.1:c.-7-9263C>G
NM_001408512.1:c.-223-17C>G
NM_001408513.1:c.-108-17C>G
NM_001408514.1:c.-108-17C>G
NM_007294.4:c.81-17C>GMANE SELECT
NM_007297.4:c.-8+8221C>G
NM_007298.4:c.81-17C>G
NM_007299.4:c.81-17C>G
NM_007300.4:c.81-17C>G
LRG_292t1:c.81-17C>G
LRG_292:g.102188C>G
NC_000017.10:g.41267813G>C
NM_007294.3:c.81-17C>G

Links:

dbSNP: rs757442952

NCBI 1000 Genomes Browser:

rs757442952

Molecular consequence:

NM_001407571.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407581.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407582.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407583.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407585.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407587.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407590.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407591.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407593.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407594.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407596.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407597.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407598.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407602.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407603.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407605.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407610.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407611.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407612.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407613.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407614.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407615.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407616.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407617.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407618.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407619.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407620.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407621.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407622.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407623.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407624.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407625.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407626.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407627.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407628.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407629.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407630.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407631.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407632.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407633.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407634.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407635.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407636.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407637.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407638.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407639.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407640.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407641.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407642.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407644.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407645.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407646.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407647.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407648.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407649.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407652.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407653.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407654.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407655.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407656.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407657.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407658.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407659.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407660.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407661.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407662.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407663.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407664.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407665.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407666.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407667.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407668.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407669.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407670.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407671.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407672.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407673.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407674.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407675.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407676.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407677.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407678.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407679.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407680.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407681.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407682.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407683.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407684.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407685.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407686.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407687.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407688.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407689.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407690.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407691.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407692.1:c.-7-9263C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407694.1:c.-177-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407695.1:c.-181-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407696.1:c.-177-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407697.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407698.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407724.1:c.-177-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407725.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407726.1:c.-8+5762C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407727.1:c.-177-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407728.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407729.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407730.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407731.1:c.-177-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407732.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407733.1:c.-177-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407734.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407735.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407736.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407737.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407738.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407739.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407740.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407741.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407742.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407743.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407744.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407745.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407746.1:c.-177-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407747.1:c.-7-9263C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407748.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407749.1:c.-177-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407750.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407751.1:c.-8+5762C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407752.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407838.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407839.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407841.1:c.-57-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407842.1:c.-177-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407843.1:c.-177-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407844.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407845.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407846.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407847.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407848.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407849.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407850.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407851.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407852.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407853.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407854.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407858.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407859.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407860.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407861.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407862.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407863.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407874.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407875.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407879.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407881.1:c.-55+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407882.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407884.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407885.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407886.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407887.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407889.1:c.-224-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407894.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407895.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407896.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407897.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407898.1:c.-55+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407899.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407900.1:c.-224-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407902.1:c.-55+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407904.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407906.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407907.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407908.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407909.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407910.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407915.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407916.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407917.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407918.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407919.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407920.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407921.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407922.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407923.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407924.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407925.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407926.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407927.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407928.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407929.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407930.1:c.-177-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407931.1:c.-7-9263C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407932.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407933.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407934.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407935.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407936.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407937.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407938.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407939.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407940.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407941.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407942.1:c.-177-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407943.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407944.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407945.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407946.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407947.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407948.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407949.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407950.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407951.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407952.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407953.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407954.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407955.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407956.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407957.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407958.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407959.1:c.-170+9481C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407960.1:c.-223-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407962.1:c.-223-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407963.1:c.-170+9475C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407964.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407965.1:c.-339-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407966.1:c.-219+9475C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407967.1:c.-219+9481C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407968.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407969.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407970.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407971.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407972.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407973.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407974.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407975.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407976.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407977.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407978.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407979.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407980.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407981.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407982.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407983.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407984.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407985.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407986.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407990.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407991.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407992.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001407993.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408392.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408396.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408397.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408398.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408399.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408400.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408401.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408402.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408403.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408404.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408406.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408407.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408408.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408409.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408410.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408411.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408412.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408413.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408414.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408415.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408416.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408418.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408419.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408420.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408421.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408422.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408423.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408424.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408425.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408426.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408427.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408428.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408429.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408430.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408431.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408432.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408433.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408434.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408435.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408436.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408437.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408438.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408439.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408440.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408441.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408442.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408443.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408444.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408445.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408446.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408447.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408448.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408450.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408451.1:c.80+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408452.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408453.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408454.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408455.1:c.-177-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408456.1:c.-177-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408457.1:c.-7-9263C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408458.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408459.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408460.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408461.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408462.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408463.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408464.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408465.1:c.-181-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408466.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408467.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408468.1:c.-177-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408469.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408470.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408472.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408473.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408474.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408475.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408476.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408478.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408479.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408480.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408481.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408482.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408483.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408484.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408485.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408489.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408490.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408491.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408492.1:c.-224-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408493.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408494.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408495.1:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408496.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408497.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408498.1:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408499.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408500.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408501.1:c.-177-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408502.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408503.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408504.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408505.1:c.-61-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408506.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408507.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408508.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408509.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408510.1:c.-223-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408511.1:c.-7-9263C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408512.1:c.-223-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408513.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001408514.1:c.-108-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007294.4:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007297.4:c.-8+8221C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007298.4:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007299.4:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]
NM_007300.4:c.81-17C>G - intron variant - [Sequence Ontology: SO:0001627]

Functional consequence:

functionally_normal [Sequence Ontology: SO:0002219] - Comment(s)

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000512275	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Likely benign (May 26, 2017)	germline	clinical testing	Citation Link,
SCV000699309	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Benign (Mar 14, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000512275

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Likely benign
(May 26, 2017)

germline

clinical testing

Citation Link,

SCV000699309

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Benign
(Mar 14, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM, Daza RM, Martin B, Zhang MD, Leith AP, Gasperini M, Janizek JD, Huang X, Starita LM, Shendure J.

Nature. 2018 Oct;562(7726):217-222. doi: 10.1038/s41586-018-0461-z. Epub 2018 Sep 12.

PubMed [citation]

PMID:: 30209399
PMCID:: PMC6181777

Details of each submission

From GeneDx, SCV000512275.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000699309.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

Variant summary: BRCA1 c.81-17C>G alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00011 in 244288 control chromosomes, predominantly at a frequency of 0.00078 within the Latino subpopulation in the gnomAD database. This frequency is not significantly higher than expected for a pathogenic variant in BRCA1 causing Hereditary Breast And Ovarian Cancer Syndrome (0.00011 vs 0.001), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.81-17C>G in individuals affected with Hereditary Breast And Ovarian Cancer Syndrome has been reported. At-least one co-occurrence with another pathogenic variant has been observed at our laboratory (MSH2 c.366+1G>A), providing supporting evidence for a benign role. At least one publication reports experimental evidence evaluating an impact on protein function. These results showed no damaging effect of this variant on homology directed repair activity (example, Findlay_2018). Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (likely benign, n=5; VUS, n=1). Based on the evidence outlined above, the variant was classified as benign.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 30, 2024

ClinVar

Relating variation to medicine